alpha-L-fucosidase 1 (tissue alpha-L-fucosidase, alpha-L-fucosidase I, alpha-L-fucoside fucohydrolase, FUCA1)

Function

• alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins

alpha-L-fucoside + H2O <--> L-fucose + an alcohol

Structure

• homotetramer
• belongs to the glycosyl hydrolase 29 family

Compartment

lysosome

Pathology

• defects in FUCA1 are the cause of fucosidosis

Genetics

gene locus: 1p34

Polymorphism

• 2 common alleles of FUCA1
  • FUCA1*1; also known as Fu1; has Arg-281
  • FUCA1*2; also known as Fu2; has Gln-281

More general terms

• alpha-L-fucosidase
• glycoprotein

Database

• UniProt: http://www.uniprot.org/uniprot/P04066.html
• OMIM: https://mirror.omim.org/entry/230000
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2517